Linked Data
dbSNP Id:
rs2430561
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68158742T>G , CM000674.2:g.68158742T>G | GRCh38 |
| NC_000012.11:g.68552522T>G , CM000674.1:g.68552522T>G | GRCh37 |
| NC_000012.10:g.66838789T>G | NCBI36 |
| NG_015840.1:g.6000A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229135.4:c.115-483A>C MANE Select | ENSP00000229135.3:n.115-483A>C | |
| ENST00000229135.3:c.115-483A>C | ENSP00000229135.3:n.115-483A>C | |
| NM_000619.2:c.115-483A>C | NP_000610.2:n.115-483A>C | |
| NM_000619.3:c.115-483A>C MANE Select | NP_000610.2:n.115-483A>C |